title: Unexpected distribution of cKIT and BRAF mutations among southern Italian patients with sinonasal melanoma.
abstract: BACKGROUND
  Racial and geographic factors seem to affect the incidence of cutaneous and mucosal melanoma.
  
  
  OBJECTIVE
  To investigate the occurrence of BRAF and cKIT impairments in patients with sinonasal melanoma in Southern Italy.
  
  
  METHODS
  Eleven sinonasal melanomas were screened for BRAF mutations and cKIT alterations by immunohistochemistry (CD117), fluorescence in situ hybridization and sequencing analyses.
  
  
  RESULTS
  A high prevalence (4/11; 36%) of BRAF mutations and lack of cKIT mutations were observed. Amplification of cKIT was found in 18% of cases; cKIT expression was detectable in 18% non-overlapping cases. No correlation between CD117 and cKIT alterations was observed. One (6%) cKIT and two (12%) BRAF mutations were detected in an additional series of 17 acral/mucosal melanomas from the same geographic areas.
  
  
  CONCLUSIONS
  Mutations of cKIT are infrequent in sinonasal melanoma in Southern Italy.
authors.affiliation: Unit of Cancer Genetics, Institute of Biomolecular Chemistry, CNR, University of Sassari, Sassari, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Colombino
authors.forename: Amelia
authors.initials: A
authors.lastname: Lissia
authors.forename: Renato
authors.initials: R
authors.lastname: Franco
authors.forename: Gerardo
authors.initials: G
authors.lastname: Botti
authors.forename: Paolo A
authors.initials: PA
authors.lastname: Ascierto
authors.forename: Antonella
authors.initials: A
authors.lastname: Manca
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Sini
authors.forename: Marina
authors.initials: M
authors.lastname: Pisano
authors.forename: Panagiotis
authors.initials: P
authors.lastname: Paliogiannis
authors.forename: Francesco
authors.initials: F
authors.lastname: Tanda
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Palmieri
authors.forename: Antonio
authors.initials: A
authors.lastname: Cossu
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001005:Anus Neoplasms / Q000235:genetics; D002830:Choroid Neoplasms / Q000235:genetics; D003230:Conjunctival Neoplasms / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005784:Gene Amplification; D006801:Humans; D007558:Italy; D008297:Male; D008444:Maxillary Sinus Neoplasms / Q000235:genetics* / Q000473:pathology; D008545:Melanoma / Q000737:chemistry / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009062:Mouth Neoplasms / Q000235:genetics; D009092:Mucous Membrane; D009154:Mutation; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D019009:Proto-Oncogene Proteins c-kit / Q000032:analysis / Q000235:genetics*; D012189:Retrospective Studies; D012878:Skin Neoplasms / Q000235:genetics*; D014846:Vulvar Neoplasms / Q000235:genetics; D044465:White People / Q000235:genetics
chemical_list: D019009:Proto-Oncogene Proteins c-kit; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf